SCN5A Variant D310N

Summary of observed carriers, functional annotations, and structural context for SCN5A D310N. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

6%

0/11 effective observations

Estimated BrS1 penetrance

15%

1/11 effective observations

Total carriers

1

0 BrS1 · 0 LQT3 · 1 unaffected

D310N is present in 1 alleles in gnomAD. This residue resides in a Mild_Hotspot region for Brugada syndrome and a Non_Hotspot region for LQT3.

Variant features alone are equivalent to phenotyping 1 individuals for Brugada syndrome and 0 individuals for LQT3.

In silico predictors

Variant-level computational predictors.
PROVEAN PolyPhen-2 BLAST-PSSM REVEL Penetrance Density BrS (%) Penetrance Density LQT3 (%)
-1.29 0.684 2.6 0.319 20 0

PROVEAN scores below -2 suggest deleterious impact. REVEL scores above 0.5–0.75 are often interpreted as likely pathogenic. PolyPhen-2 scores above 0.85 are typically pathogenic. Penetrance density summarises neighbouring residue risk (Kroncke et al. 2019).

Reported carrier data

Observed carriers by publication or cohort.
Source Year Carriers Unaffected LQT3 BrS1 Other Other Disease
Literature, cohort, and gnomAD – 1 1 0 0 –
Variant features alone – 15 14 0 1 – –

Totals may differ from individual publications due to duplicate patients removed during curation.

Nearby variants

Neighbouring residues within 15 Ångström provide structural context. Variants listed in the right-most column have been observed clinically or in gnomAD.

Previously observed variants near D310N.
Neighbour residue Distance (Å) Observed variants
295 15 E295K,
296 14
297 14
298 13 G298S, G298D,
299 13 L299F, L299M, L299F,
300 12 V300I,
301 11
302 11
303 10
304 9
305 8 D305N
306 8 L306F, L306V,
307 7
308 5
309 4 S309C, S309N,
310 0 D310N,
311 4
312 5 E312K, c.934+1G>A, c.934+4C>T,
313 7
314 8
315 8 L315P,
316 9
317 10 K317N, K317E, K317N, K317M,
318 11
319 11 G319S, G319C, G319R,
320 12 T320N,
321 13 S321Y,
322 13
323 14
324 14
325 15 L325R,